title: Novel exonic mutation (5319 G to A) resulting in two aberrantly spliced transcripts of the ATM gene in a Japanese patient with ataxia-telangiectasia.
authors.affiliation: Department of Pediatrics, Gifu University School of Medicine, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Fukao
authors.forename: H
authors.initials: H
authors.lastname: Tashita
authors.forename: T
authors.initials: T
authors.lastname: Teramoto
authors.forename: R
authors.initials: R
authors.lastname: Inoue
authors.forename: H
authors.initials: H
authors.lastname: Kaneko
authors.forename: K
authors.initials: K
authors.lastname: Komiyama
authors.forename: A
authors.initials: A
authors.lastname: Bar-Shira
authors.forename: S
authors.initials: S
authors.lastname: Gilad
authors.forename: Y
authors.initials: Y
authors.lastname: Shiloh
authors.forename: M
authors.initials: M
authors.lastname: Nishimura
authors.forename: N
authors.initials: N
authors.lastname: Kondo
mesh_terms: D000293:Adolescent; D000328:Adult; D019943:Amino Acid Substitution; D001260:Ataxia Telangiectasia / Q000235:genetics* / Q000473:pathology; D064007:Ataxia Telangiectasia Mutated Proteins; D001483:Base Sequence; D018797:Cell Cycle Proteins; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics; D004268:DNA-Binding Proteins; D005091:Exons / Q000235:genetics; D005192:Family Health; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007564:Japan; D016254:Mutagenesis, Insertional; D009154:Mutation; D017346:Protein Serine-Threonine Kinases; D011506:Proteins / Q000235:genetics*; D012326:RNA Splicing; D025521:Tumor Suppressor Proteins
chemical_list: D018797:Cell Cycle Proteins; D018076:DNA, Complementary; D004268:DNA-Binding Proteins; D011506:Proteins; D025521:Tumor Suppressor Proteins; C576324:ATM protein, human; D064007:Ataxia Telangiectasia Mutated Proteins; D017346:Protein Serine-Threonine Kinases